深圳地区乳腺癌患者BRCA1基因突变分析

目的研究BRCA1基因在乳腺癌中的突变情况，探讨BRCA1基因突变与乳腺癌的关系。方法应用PCR—SSCP分析和DNA直接测序法，检测57例乳腺癌BRCA1第2，5，11，18，20和21外显子基因突变情况。结果57例中共检测出7例突变，其中4例为11外显子的错义突变（3232A〉G），3例为20外显子的拼接点突变（IVS20—68insA〉A）。乳腺癌BRCA1的基因突变率为12．2％（7／57）。结论BRCA1基因突变与乳腺癌有密切关系。

Objective To study the BRCA1 gene mutation in breast cancer and explore the relationship between BRCA1 gene mutation and breast cancer among patients in Shenzhen area. Methods BRCA1 gene mutation at the 2nd, 5th, 1 lth, 18th, 20th and 21st exon was detected in 57 patients with breast cancer by PCR - SSCP analysis and DNA direct sequencing in Shenzhen area. Results Seven eases of gene mutations were found in 57 cases, 4 of which were missense mutation at exon 11 （3232A 〉 G）, 3 cases were splicing mutation at exon 20 （IVS20 -68insA 〉 A）. BRCAI gene mutation rate in patients with breast cancer was 12. 2% （7 / 57）. Conclusion BRCAI gene muation is closely correlated with breast cancer.